Mutagenetix > Incidental Mutation

Incidental Mutation 'R6734:Gsdma2'

528351

Institutional Source

Beutler Lab

Gene Symbol

Gsdma2

Ensembl Gene

ENSMUSG00000017211

Gene Name

gasdermin A2

Synonyms

2200001G21Rik, Gsdml2, 2210006M16Rik, Gsdm2, 2210009F20Rik, 2210411P14Rik

MMRRC Submission

044852-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6734 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98537585-98548790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98540416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 112 (T112A)

Ref Sequence

ENSEMBL: ENSMUSP00000091470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017355] [ENSMUST00000093938]

AlphaFold

Q32M21

Predicted Effect

probably benign
Transcript: ENSMUST00000017355

SMART Domains

Protein: ENSMUSP00000017355
Gene: ENSMUSG00000017211

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	6	251	2.9e-73	PFAM
low complexity region	259	273	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093938
AA Change: T112A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091470
Gene: ENSMUSG00000017211
AA Change: T112A

Domain	Start	End	E-Value	Type
Pfam:Gasdermin	3	418	9.5e-144	PFAM
low complexity region	426	440	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138686

Meta Mutation Damage Score

0.1508

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ano6	A	G	15: 95,847,417 (GRCm39)	K554R	probably damaging	Het
Arhgef10	A	T	8: 15,025,053 (GRCm39)	I703F	probably damaging	Het
Bbs1	T	C	19: 4,953,924 (GRCm39)	S80G	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Camk1	C	A	6: 113,311,345 (GRCm39)	R352L	probably benign	Het
Cand1	G	A	10: 119,047,897 (GRCm39)	P531L	possibly damaging	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Col24a1	C	A	3: 145,214,429 (GRCm39)	P1384Q	probably benign	Het
Csmd2	C	A	4: 128,357,606 (GRCm39)	T1689K	probably benign	Het
Cyp26a1	T	A	19: 37,689,660 (GRCm39)	L452H	probably damaging	Het
Dcpp2	T	C	17: 24,119,545 (GRCm39)	Y120H	probably damaging	Het
Dennd6a	G	T	14: 26,329,774 (GRCm39)	R115L	possibly damaging	Het
Eml2	T	A	7: 18,934,432 (GRCm39)	V377E	probably benign	Het
Fam135b	T	C	15: 71,334,629 (GRCm39)	E855G	probably benign	Het
Fam149a	A	T	8: 45,834,478 (GRCm39)	I107K	probably benign	Het
Fam227b	A	T	2: 125,968,896 (GRCm39)	Y59*	probably null	Het
Fbn2	T	C	18: 58,169,032 (GRCm39)	E2249G	probably damaging	Het
Flrt1	T	C	19: 7,073,524 (GRCm39)	D341G	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Klhl24	T	C	16: 19,926,279 (GRCm39)	V269A	probably damaging	Het
Lcorl	A	G	5: 45,890,839 (GRCm39)	S505P	probably damaging	Het
Liph	A	G	16: 21,802,707 (GRCm39)	S121P	probably damaging	Het
Lrp4	G	A	2: 91,316,242 (GRCm39)	V787M	possibly damaging	Het
Lrrd1	A	C	5: 3,900,226 (GRCm39)	D177A	possibly damaging	Het
Mbd1	G	A	18: 74,409,114 (GRCm39)	R399H	probably damaging	Het
Naa25	C	T	5: 121,576,888 (GRCm39)	T879M	possibly damaging	Het
Naa35	T	G	13: 59,756,005 (GRCm39)	L147R	possibly damaging	Het
Ninl	C	A	2: 150,787,003 (GRCm39)		probably null	Het
Nrap	T	C	19: 56,333,941 (GRCm39)	D972G	probably damaging	Het
Or9k7	A	G	10: 130,046,126 (GRCm39)	F291S	probably benign	Het
Pdzd2	T	C	15: 12,592,551 (GRCm39)	E31G	probably damaging	Het
Plec	C	T	15: 76,078,603 (GRCm39)	E41K	probably damaging	Het
Plxnb1	A	T	9: 108,937,988 (GRCm39)	K1245*	probably null	Het
Ppfia1	T	C	7: 144,032,790 (GRCm39)	T1263A	probably damaging	Het
Prex2	G	A	1: 11,150,283 (GRCm39)	V152I	probably damaging	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Prss3l	T	C	6: 41,422,321 (GRCm39)	Y28C	probably damaging	Het
Prune2	T	G	19: 16,981,097 (GRCm39)	F85V	probably damaging	Het
Rrp1b	T	G	17: 32,274,278 (GRCm39)		probably benign	Het
Sec62	A	G	3: 30,864,609 (GRCm39)	T158A	probably benign	Het
Sema6a	G	A	18: 47,412,236 (GRCm39)	T526I	probably benign	Het
Shank1	G	T	7: 44,003,110 (GRCm39)	A1610S	probably benign	Het
Slc24a4	T	C	12: 102,185,259 (GRCm39)	V123A	probably damaging	Het
Stk11ip	T	C	1: 75,509,013 (GRCm39)	V714A	probably benign	Het
Tas1r3	T	C	4: 155,945,257 (GRCm39)	T655A	probably damaging	Het
Tns2	G	T	15: 102,011,551 (GRCm39)	L10F	probably damaging	Het
Trmt10c	A	G	16: 55,854,489 (GRCm39)	V382A	probably benign	Het
Unc45a	G	C	7: 79,986,746 (GRCm39)	T149R	probably damaging	Het
Zhx3	T	G	2: 160,623,640 (GRCm39)	I176L	probably damaging	Het
Zscan12	T	A	13: 21,552,966 (GRCm39)	C263*	probably null	Het

Other mutations in Gsdma2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Gsdma2	APN	11	98,541,800 (GRCm39)	missense	probably damaging	1.00
IGL03091:Gsdma2	APN	11	98,542,828 (GRCm39)	missense	probably damaging	1.00
IGL03252:Gsdma2	APN	11	98,539,916 (GRCm39)	missense	probably damaging	1.00
IGL03279:Gsdma2	APN	11	98,548,549 (GRCm39)	missense	unknown
R0116:Gsdma2	UTSW	11	98,540,009 (GRCm39)	missense	probably damaging	1.00
R0443:Gsdma2	UTSW	11	98,548,514 (GRCm39)	missense	probably damaging	1.00
R0521:Gsdma2	UTSW	11	98,545,727 (GRCm39)	nonsense	probably null
R0626:Gsdma2	UTSW	11	98,542,810 (GRCm39)	missense	probably damaging	0.96
R1163:Gsdma2	UTSW	11	98,541,684 (GRCm39)	missense	probably damaging	0.96
R1340:Gsdma2	UTSW	11	98,548,475 (GRCm39)	missense	probably damaging	0.97
R1834:Gsdma2	UTSW	11	98,539,905 (GRCm39)	missense	probably damaging	1.00
R1972:Gsdma2	UTSW	11	98,541,744 (GRCm39)	missense	probably benign	0.04
R2344:Gsdma2	UTSW	11	98,546,417 (GRCm39)	missense	probably damaging	1.00
R2964:Gsdma2	UTSW	11	98,548,085 (GRCm39)	missense	probably damaging	1.00
R4093:Gsdma2	UTSW	11	98,541,677 (GRCm39)	missense	probably benign	0.42
R4256:Gsdma2	UTSW	11	98,542,758 (GRCm39)	splice site	probably null
R4711:Gsdma2	UTSW	11	98,540,439 (GRCm39)	missense	probably damaging	0.96
R5175:Gsdma2	UTSW	11	98,543,438 (GRCm39)	missense	probably benign	0.01
R6909:Gsdma2	UTSW	11	98,543,383 (GRCm39)	nonsense	probably null
R7621:Gsdma2	UTSW	11	98,540,375 (GRCm39)	missense	probably benign
R7749:Gsdma2	UTSW	11	98,548,547 (GRCm39)	missense	unknown
R8135:Gsdma2	UTSW	11	98,542,872 (GRCm39)	missense	probably benign	0.00
R8775:Gsdma2	UTSW	11	98,540,009 (GRCm39)	missense	probably damaging	1.00
R8775-TAIL:Gsdma2	UTSW	11	98,540,009 (GRCm39)	missense	probably damaging	1.00
R9599:Gsdma2	UTSW	11	98,540,459 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GTTCTCTCTAGCAGTGCTGTGC -3'
(R):5'- TGCTTCCAATTACATGCACTAC -3'

Sequencing Primer
(F):5'- CAGTGCTGTGCTGATGAGTC -3'
(R):5'- TCTTAGCCATCCTGAGAGGTACAG -3'

Posted On

2018-07-24